Incidental Mutation 'R7699:Pdzd8'
| ID |
647913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzd8
|
| Ensembl Gene |
ENSMUSG00000074746 |
| Gene Name |
PDZ domain containing 8 |
| Synonyms |
Pdzk8, A630041P07Rik |
| MMRRC Submission |
045760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59333373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 216
(Y216C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099274]
|
| AlphaFold |
B9EJ80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099274
AA Change: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: Y216C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
PDZ
|
374 |
448 |
2.02e-10 |
SMART |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
C1
|
834 |
884 |
8.31e-8 |
SMART |
|
coiled coil region
|
1021 |
1057 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3338 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,070,792 (GRCm39) |
P638T |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,319,674 (GRCm39) |
I1404N |
probably damaging |
Het |
| Cdc42se1 |
A |
G |
3: 95,139,908 (GRCm39) |
N35D |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,376,231 (GRCm39) |
S1447G |
probably benign |
Het |
| Chd6 |
T |
A |
2: 160,867,863 (GRCm39) |
H436L |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,217,326 (GRCm39) |
V605A |
probably benign |
Het |
| Col22a1 |
T |
A |
15: 71,845,700 (GRCm39) |
D354V |
probably damaging |
Het |
| Col25a1 |
T |
A |
3: 130,316,128 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,514,734 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cux1 |
A |
T |
5: 136,514,593 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,335 (GRCm39) |
S226T |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,499,162 (GRCm39) |
D68G |
probably benign |
Het |
| Dicer1 |
A |
C |
12: 104,671,429 (GRCm39) |
L947R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,359,590 (GRCm39) |
S89P |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,032 (GRCm39) |
K144E |
possibly damaging |
Het |
| Emc1 |
T |
A |
4: 139,082,181 (GRCm39) |
H94Q |
probably benign |
Het |
| Ep300 |
C |
T |
15: 81,470,594 (GRCm39) |
|
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,796,440 (GRCm39) |
I383T |
|
Het |
| Epo |
T |
A |
5: 137,483,438 (GRCm39) |
E5D |
probably benign |
Het |
| Esp15 |
G |
A |
17: 39,955,624 (GRCm39) |
V64I |
possibly damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,871,504 (GRCm39) |
V577E |
probably damaging |
Het |
| Fhl4 |
A |
T |
10: 84,934,113 (GRCm39) |
C223S |
probably damaging |
Het |
| Fhl4 |
A |
T |
10: 84,934,379 (GRCm39) |
I134N |
probably benign |
Het |
| Frmpd2 |
G |
T |
14: 33,264,895 (GRCm39) |
M891I |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,257 (GRCm39) |
I194V |
probably benign |
Het |
| Glt8d2 |
A |
C |
10: 82,498,122 (GRCm39) |
|
probably null |
Het |
| Gm12886 |
G |
C |
4: 121,273,876 (GRCm39) |
H113Q |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,120,494 (GRCm39) |
S345P |
probably damaging |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,646 (GRCm39) |
Y71* |
probably null |
Het |
| Il18bp |
A |
G |
7: 101,666,029 (GRCm39) |
W50R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,054,195 (GRCm39) |
I33K |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,654 (GRCm39) |
A2833T |
probably damaging |
Het |
| Manea |
T |
G |
4: 26,340,758 (GRCm39) |
N68T |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,130,201 (GRCm39) |
L339P |
probably damaging |
Het |
| Mblac1 |
A |
C |
5: 138,192,919 (GRCm39) |
D87A |
probably damaging |
Het |
| Mmp24 |
C |
T |
2: 155,640,096 (GRCm39) |
T142I |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 101,950,261 (GRCm39) |
H531L |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,249,521 (GRCm39) |
I339F |
unknown |
Het |
| Naip2 |
G |
A |
13: 100,296,877 (GRCm39) |
T1053I |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,371,248 (GRCm39) |
|
probably null |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,529 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,841 (GRCm39) |
T117A |
probably benign |
Het |
| Otud7b |
T |
C |
3: 96,063,280 (GRCm39) |
F840L |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,915,142 (GRCm39) |
I133F |
|
Het |
| Plaur |
A |
G |
7: 24,173,692 (GRCm39) |
N221S |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,410,828 (GRCm39) |
T1068A |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,936,755 (GRCm39) |
D1659G |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,391,022 (GRCm39) |
M1357K |
probably benign |
Het |
| Prr36 |
G |
T |
8: 4,263,989 (GRCm39) |
T559N |
unknown |
Het |
| Prss46 |
A |
G |
9: 110,678,622 (GRCm39) |
M2V |
probably benign |
Het |
| Rbpms |
T |
A |
8: 34,354,391 (GRCm39) |
E51D |
probably damaging |
Het |
| Rere |
C |
T |
4: 150,701,555 (GRCm39) |
R328W |
|
Het |
| Retnla |
T |
A |
16: 48,663,176 (GRCm39) |
N26K |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,269,404 (GRCm39) |
V21I |
probably benign |
Het |
| Safb |
T |
A |
17: 56,908,504 (GRCm39) |
S598R |
unknown |
Het |
| Sertad4 |
A |
G |
1: 192,529,175 (GRCm39) |
S214P |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,017,938 (GRCm39) |
Q786* |
probably null |
Het |
| Slc8a3 |
A |
C |
12: 81,361,247 (GRCm39) |
L524W |
probably damaging |
Het |
| Sp3 |
T |
C |
2: 72,801,573 (GRCm39) |
T191A |
probably benign |
Het |
| Sp9 |
T |
C |
2: 73,103,724 (GRCm39) |
S93P |
probably damaging |
Het |
| Tbrg1 |
A |
C |
9: 37,560,771 (GRCm39) |
H368Q |
probably benign |
Het |
| Tinagl1 |
T |
G |
4: 130,061,832 (GRCm39) |
Q198H |
probably benign |
Het |
| Usp19 |
C |
T |
9: 108,373,371 (GRCm39) |
R648* |
probably null |
Het |
| Vmn2r124 |
A |
G |
17: 18,293,985 (GRCm39) |
M691V |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,536 (GRCm39) |
M682L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,811,975 (GRCm39) |
H3344L |
|
Het |
| Vwa3a |
G |
A |
7: 120,351,841 (GRCm39) |
G35E |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,754 (GRCm39) |
S2935G |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
C |
A |
17: 22,594,646 (GRCm39) |
Y377* |
probably null |
Het |
| Zfp952 |
A |
G |
17: 33,220,983 (GRCm39) |
K67R |
possibly damaging |
Het |
|
| Other mutations in Pdzd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Pdzd8
|
APN |
19 |
59,288,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01321:Pdzd8
|
APN |
19 |
59,289,961 (GRCm39) |
missense |
probably benign |
|
|
IGL01865:Pdzd8
|
APN |
19 |
59,288,077 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02044:Pdzd8
|
APN |
19 |
59,303,724 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02119:Pdzd8
|
APN |
19 |
59,288,922 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02186:Pdzd8
|
APN |
19 |
59,289,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02389:Pdzd8
|
APN |
19 |
59,289,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02479:Pdzd8
|
APN |
19 |
59,288,215 (GRCm39) |
nonsense |
probably null |
|
|
IGL02713:Pdzd8
|
APN |
19 |
59,333,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02958:Pdzd8
|
APN |
19 |
59,288,804 (GRCm39) |
nonsense |
probably null |
|
|
IGL02966:Pdzd8
|
APN |
19 |
59,289,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Pdzd8
|
APN |
19 |
59,288,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
citadel
|
UTSW |
19 |
59,287,957 (GRCm39) |
makesense |
probably null |
|
|
Eleventh_hour
|
UTSW |
19 |
59,293,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
keep
|
UTSW |
19 |
59,289,783 (GRCm39) |
nonsense |
probably null |
|
|
Stronghold
|
UTSW |
19 |
59,333,784 (GRCm39) |
nonsense |
probably null |
|
|
R0018:Pdzd8
|
UTSW |
19 |
59,289,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Pdzd8
|
UTSW |
19 |
59,288,028 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0196:Pdzd8
|
UTSW |
19 |
59,289,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Pdzd8
|
UTSW |
19 |
59,288,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Pdzd8
|
UTSW |
19 |
59,288,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0418:Pdzd8
|
UTSW |
19 |
59,289,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0736:Pdzd8
|
UTSW |
19 |
59,333,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1456:Pdzd8
|
UTSW |
19 |
59,288,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1709:Pdzd8
|
UTSW |
19 |
59,289,771 (GRCm39) |
missense |
probably benign |
|
|
R1965:Pdzd8
|
UTSW |
19 |
59,288,554 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2155:Pdzd8
|
UTSW |
19 |
59,288,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3077:Pdzd8
|
UTSW |
19 |
59,293,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3411:Pdzd8
|
UTSW |
19 |
59,333,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Pdzd8
|
UTSW |
19 |
59,288,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4354:Pdzd8
|
UTSW |
19 |
59,333,913 (GRCm39) |
missense |
probably benign |
|
|
R4504:Pdzd8
|
UTSW |
19 |
59,333,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Pdzd8
|
UTSW |
19 |
59,293,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Pdzd8
|
UTSW |
19 |
59,333,743 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4773:Pdzd8
|
UTSW |
19 |
59,289,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Pdzd8
|
UTSW |
19 |
59,289,236 (GRCm39) |
nonsense |
probably null |
|
|
R5176:Pdzd8
|
UTSW |
19 |
59,333,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Pdzd8
|
UTSW |
19 |
59,289,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Pdzd8
|
UTSW |
19 |
59,288,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5766:Pdzd8
|
UTSW |
19 |
59,288,972 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5903:Pdzd8
|
UTSW |
19 |
59,333,718 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6036:Pdzd8
|
UTSW |
19 |
59,293,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Pdzd8
|
UTSW |
19 |
59,293,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6238:Pdzd8
|
UTSW |
19 |
59,288,994 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6360:Pdzd8
|
UTSW |
19 |
59,289,415 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6509:Pdzd8
|
UTSW |
19 |
59,333,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6674:Pdzd8
|
UTSW |
19 |
59,289,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Pdzd8
|
UTSW |
19 |
59,287,957 (GRCm39) |
makesense |
probably null |
|
|
R6902:Pdzd8
|
UTSW |
19 |
59,289,829 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7017:Pdzd8
|
UTSW |
19 |
59,333,784 (GRCm39) |
nonsense |
probably null |
|
|
R7088:Pdzd8
|
UTSW |
19 |
59,333,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Pdzd8
|
UTSW |
19 |
59,288,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Pdzd8
|
UTSW |
19 |
59,288,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Pdzd8
|
UTSW |
19 |
59,333,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Pdzd8
|
UTSW |
19 |
59,289,077 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7314:Pdzd8
|
UTSW |
19 |
59,289,783 (GRCm39) |
nonsense |
probably null |
|
|
R7751:Pdzd8
|
UTSW |
19 |
59,333,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7759:Pdzd8
|
UTSW |
19 |
59,288,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Pdzd8
|
UTSW |
19 |
59,316,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Pdzd8
|
UTSW |
19 |
59,333,518 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9364:Pdzd8
|
UTSW |
19 |
59,333,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Pdzd8
|
UTSW |
19 |
59,289,219 (GRCm39) |
nonsense |
probably null |
|
|
R9406:Pdzd8
|
UTSW |
19 |
59,333,245 (GRCm39) |
missense |
|
|
|
R9548:Pdzd8
|
UTSW |
19 |
59,289,826 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9554:Pdzd8
|
UTSW |
19 |
59,333,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Pdzd8
|
UTSW |
19 |
59,333,683 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9750:Pdzd8
|
UTSW |
19 |
59,289,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGATCTTGTAACTGGGCAG -3'
(R):5'- TCATCAAGACCATCCGGCTG -3'
Sequencing Primer
(F):5'- CGCTTGATGATCTTCTTGAGC -3'
(R):5'- GGAGCTGGCCTTTGAAG -3'
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| Posted On |
2020-09-02 |
Incidental Mutation